Varaico: Literature-Extracted Genetic Variants

AGBL1

185 papers

RefSeq Summary

Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutam...

Pfam Domains

TPR_CCP1_Naa 1–267UCSCCCP1-like, N-terminal TPR repeats

Pepdidase_M14_Naa 596–731UCSCCytosolic carboxypeptidase N-terminal domain

Peptidase_M14aa 754–992UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

AGBL carboxypeptidase 1

HGNC Alias Symbols

FLJ32310; CCP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386094.1

p.R211Q

c.632G>A

Surrounding Variants

1 paper

NM_001386094.1

p.R211G

c.631C>G

1 paper

NM_001386094.1

p.R212Q

c.635G>A

1 paper

NM_001386094.1

p.I210F

c.628A>T

1 paper

NM_001386094.1

p.A204V

c.611C>T

1 paper

NM_001386094.1

p.L218P

c.653T>C

1 paper

NM_001386094.1

p.R219delFs

c.656delG

1 paper

NM_001386094.1

p.R219fs

c.655_656fs

1 paper

NM_001386094.1

p.T203I

c.608C>T

2 papers

NM_001386094.1

p.R219K

c.656G>A

1 paper

NM_001386094.1

p.H201Q

c.603T>A

1 paper

NM_001386094.1

p.H201Q

c.603T>G

1 paper

NM_001386094.1

p.A222S

c.664G>T